A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3892603



Internal ID18836737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:68459705..68514828hg38UCSC Ensembl
Outerchr2:68459705..68514828hg38UCSC Ensembl
Innerchr2:68686837..68741960hg19UCSC Ensembl
Outerchr2:68686837..68741960hg19UCSC Ensembl
Innerchr2:68540341..68595464hg18UCSC Ensembl
Outerchr2:68540341..68595464hg18UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg3855124
hg1955124
hg1855124
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25796717
Samples
Known GenesAPLF, FBXO48
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3892603
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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